Effects of genetic variation in the P2RX7 gene on pharmacodynamics of a P2X(7) receptor antagonist: a prospective genotyping approach

Br J Clin Pharmacol. 2012 Aug;74(2):376-80. doi: 10.1111/j.1365-2125.2012.04200.x.

Abstract

Aims: To investigate the effects of two single nucleotide polymorphisms (SNPs) in the human P2X₇ receptor gene (P2RX7)--1068G>A (A348T) and 1513A>C (E496A)--on P2X₇ receptor function, using a specific receptor antagonist (GSK1370319A) and prospective genetic stratification.

Methods: Lipopolysaccharide- and ATP-stimulated interleukin-1β production was determined in the presence or absence of GSK1370319A in blood culture from 32 prospectively genotyped subjects.

Results: There was approximately 6.7-fold difference (P < 0.0001) in IC₅₀ for inhibition of ATP-stimulated interleukin-1β release by GSK1370319A between individuals with the homozygous gain--(1068A) and loss-of-function (1513C) genotypes (expressing the 348T, 496E and 348A, 496A alleles, respectively).

Conclusions: Leukocyte P2X₇ receptors had significantly altered pharmacodynamic responses to a specific antagonist (GSK1370319A), directly related to SNP genotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Adult
  • Dose-Response Relationship, Drug
  • Female
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Interleukin-1beta / pharmacology
  • Leukocytes / drug effects*
  • Leukocytes / metabolism
  • Lipopolysaccharides / pharmacology
  • Male
  • Middle Aged
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Prospective Studies
  • Purinergic P2X Receptor Antagonists / pharmacology*
  • Pyrrolidines / pharmacology*
  • Receptors, Purinergic P2X7 / drug effects*
  • Receptors, Purinergic P2X7 / genetics*

Substances

  • GSK 1370319A
  • Interleukin-1beta
  • Lipopolysaccharides
  • P2RX7 protein, human
  • Purinergic P2X Receptor Antagonists
  • Pyrrolidines
  • Receptors, Purinergic P2X7
  • Adenosine Triphosphate